【摘要】 目的探讨八探针间期荧光原位杂交技术(FISH)在检测急性髓系白血病(AML)常见细胞遗传学异常中的价值。方法采用八探针FISH系统,即以针对AML1/ETO融合基因、PML-RARα融合基因、CBFβ/MYH11融合基因、MLL基因、P53基因、De(l5q)、-7/Del(7q)、Del(20q)八种DNA探针对40例AML患者细胞遗传学异常进行检测,并与常规G显带核型分析技术相比较。结果 40例AML中,共22例多探针FISH检出了细胞遗传学改变,总阳性率为57.50%,包括:AML1/ETO融合基因、PML-RARα融合基因、MLL基因断裂重排、Del(5q)、-7/Del(7q)、P53基因缺失、8号染色体三体7种细胞遗传学异常。而常规G显带核型分析技术(CCG)对于相对应的遗传学异常仅检出8例,另检出3例八探针FISH不能检出的异常,总阳性率为27.50%。结论 FISH八探针诊断技术较常规G显带核型分析技术具有省时、准确、高效等优点,可作为急性髓系白血病临床诊断的一个重要手段。更多还原

【Abstract】 Objective To assess the value of multiprobe fluorescence in situ hybridization(FISH) panel in the diagnosis of acute myeloid leukemia(AML).Methods The multiprobe AML/MDS panel comprising 8 different FISH probes for AML1/ETO transfusion gene,PML-RARα transfusion gene,CBFβ/MYH11 transfusion gene,MLL breakapart,P53 deletion,Del(5q),-7/Del(7q),and Del(20q) was tested in 40 cases of AML,and the results were compared with those by conventional cytogenetic G-banding(CCG) test.Results With multiprobe FISH panel,22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities,namely AML1/ETO transfusion gene,PML-RARα transfusion gene,MLL breakapart,P53 deletion,Del(5q),-7/Del(7q) and trisomy 8.The positive ratio of the multiprobe FISH was 57.5% .CCG only identified 8 cases with the corresponding cytogenetic abnormalities and 3 cases with other cytogenetic abnormalities,and the positive ratio was only 27.50%.Conclusion Mutiprobe FISH panel is more rapid,accurate and effective than CCG in the diagnosis of AML.更多还原